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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-1771055-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=1771055&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 1771055,
"ref": "A",
"alt": "G",
"effect": "start_lost",
"transcript": "NM_018941.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_018941.4",
"protein_id": "NP_061764.2",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": "ENST00000331222.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000331222.6",
"protein_id": "ENSP00000328182.4",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": "NM_018941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.1A>G",
"hgvs_p": null,
"transcript": "ENST00000635855.1",
"protein_id": "ENSP00000489726.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000519254.2",
"protein_id": "ENSP00000490016.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 176,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000635751.1",
"protein_id": "ENSP00000489694.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000637083.1",
"protein_id": "ENSP00000490235.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000637156.1",
"protein_id": "ENSP00000490458.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000520991.3",
"protein_id": "ENSP00000487905.2",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 216,
"cds_start": 1,
"cds_end": null,
"cds_length": 651,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000636934.1",
"protein_id": "ENSP00000490218.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 216,
"cds_start": 1,
"cds_end": null,
"cds_length": 651,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000524258.2",
"protein_id": "ENSP00000488898.2",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 134,
"cds_start": 1,
"cds_end": null,
"cds_length": 407,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000637594.1",
"protein_id": "ENSP00000489999.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 76,
"cds_start": 1,
"cds_end": null,
"cds_length": 232,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_005266021.5",
"protein_id": "XP_005266078.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 7124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_005266022.2",
"protein_id": "XP_005266079.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_005266023.2",
"protein_id": "XP_005266080.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 7106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_011534745.2",
"protein_id": "XP_011533047.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 7140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_011534746.3",
"protein_id": "XP_011533048.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 7197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_047421512.1",
"protein_id": "XP_047277468.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 286,
"cds_start": 1,
"cds_end": null,
"cds_length": 861,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 7126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_011534747.3",
"protein_id": "XP_011533049.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 263,
"cds_start": 1,
"cds_end": null,
"cds_length": 792,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_047421513.1",
"protein_id": "XP_047277469.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 263,
"cds_start": 1,
"cds_end": null,
"cds_length": 792,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "n.1A>G",
"hgvs_p": null,
"transcript": "ENST00000635970.1",
"protein_id": "ENSP00000490439.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.-48A>G",
"hgvs_p": null,
"transcript": "ENST00000635773.1",
"protein_id": "ENSP00000490620.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.-201A>G",
"hgvs_p": null,
"transcript": "ENST00000636175.1",
"protein_id": "ENSP00000490769.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"dbsnp": "rs143730802",
"frequency_reference_population": 0.000009912731,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000889276,
"gnomad_genomes_af": 0.0000197081,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7837467193603516,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.671,
"revel_prediction": "Pathogenic",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.006,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_018941.4",
"gene_symbol": "CLN8",
"hgnc_id": 2079,
"effects": [
"start_lost"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?"
},
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000635855.1",
"gene_symbol": "KBTBD11-OT1",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Neuronal ceroid lipofuscinosis,Neuronal ceroid lipofuscinosis 8,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}